"Donate what you Can to cure GAN."
June 2009 - Need information from GAN families!
Hi Everyone,
In order for anyone to participate in any eventual clinical trial, their mutation analysis must be performed. We need to know exactly what their muation is and whether it's homozygous or heterozygous.
Dr. Pascale Bomont, France, wants to conduct a study that will apply her antibody against gigaxonin protein to all the GAN patients blood to see if any gigaxonin is detected. We would like for all GAN patients to participate in the study. If the GAN gene hasn't yet been sequenced, we will ask Pascale to do it. (We will get with her and ask how she wants the blood drawn for sequencing.) If sequencing has already been done, the blood needs to be drawn and immortalized so it can be sent to Dr. Pascale Bomont when she returns from maternity leave this Fall.
If there is a teaching hospital (medical university) near where you live, you could call and ask if they can draw and immortalize the blood to be used for research purposes. Ask if they can store the blood until it's ready to be sent to France. Dr. Bomont will provide her FedEx # and address when she returns so they won't have to pay postage.
The purpose of the study is to see if any GAN mutation results in very low levels of a functional protein. Right now, she's tested about 8 GAN patient's blood with her antibody and they have very low levels of unstable protein.
It is very important that each and every GAN patient have their mutation analysis performed. Please respond to Lori Sames via email at lorisames@yahoo.com if you wish to provide the immortalized blood to be sent to Pascale Bomont to be used in a study or for mutation analysis.
Thanks.
Magaen Bates
In order for anyone to participate in any eventual clinical trial, their mutation analysis must be performed. We need to know exactly what their muation is and whether it's homozygous or heterozygous.
Dr. Pascale Bomont, France, wants to conduct a study that will apply her antibody against gigaxonin protein to all the GAN patients blood to see if any gigaxonin is detected. We would like for all GAN patients to participate in the study. If the GAN gene hasn't yet been sequenced, we will ask Pascale to do it. (We will get with her and ask how she wants the blood drawn for sequencing.) If sequencing has already been done, the blood needs to be drawn and immortalized so it can be sent to Dr. Pascale Bomont when she returns from maternity leave this Fall.
If there is a teaching hospital (medical university) near where you live, you could call and ask if they can draw and immortalize the blood to be used for research purposes. Ask if they can store the blood until it's ready to be sent to France. Dr. Bomont will provide her FedEx # and address when she returns so they won't have to pay postage.
The purpose of the study is to see if any GAN mutation results in very low levels of a functional protein. Right now, she's tested about 8 GAN patient's blood with her antibody and they have very low levels of unstable protein.
It is very important that each and every GAN patient have their mutation analysis performed. Please respond to Lori Sames via email at lorisames@yahoo.com if you wish to provide the immortalized blood to be sent to Pascale Bomont to be used in a study or for mutation analysis.
Thanks.
Magaen Bates
About
Badge
© 2009 Created by Matt Sames on Ning. Create Your Own Social Network
